TY - JOUR
T1 - Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
AU - iNTD Registry Study Group
AU - Kuseyri Hübschmann, Oya
AU - Horvath, Gabriella
AU - Cortès-Saladelafont, Elisenda
AU - Yıldız, Yılmaz
AU - Mastrangelo, Mario
AU - Pons, Roser
AU - Friedman, Jennifer
AU - Mercimek-Andrews, Saadet
AU - Wong, Suet Na
AU - Pearson, Toni S.
AU - Zafeiriou, Dimitrios I.
AU - Kulhánek, Jan
AU - Kurian, Manju A.
AU - López-Laso, Eduardo
AU - Oppebøen, Mari
AU - Kılavuz, Sebile
AU - Wassenberg, Tessa
AU - Goez, Helly
AU - Scholl-Bürgi, Sabine
AU - Porta, Francesco
AU - Honzík, Tomáš
AU - Santer, René
AU - Burlina, Alberto
AU - Sivri, H. Serap
AU - Leuzzi, Vincenzo
AU - Hoffmann, Georg F.
AU - Jeltsch, Kathrin
AU - Hübschmann, Daniel
AU - Garbade, Sven F.
AU - Assmann, Birgit
AU - Fung, Cheuk Wing
AU - Guder, Philipp
AU - Hong, Stacey Tay Kiat
AU - Karall, Daniela
AU - Kato, Mitsuhiro
AU - Kavecan, Ivana
AU - Koht, Jeanette Aimee
AU - Kuster, Alice
AU - Lücke, Thomas
AU - Manti, Filippo
AU - Mir, Pablo
AU - Mühlhausen, Chris
AU - Önenli Mungan, Halise Neslihan
AU - Palacios, Natalia Alexandra Julia
AU - Ramos, Joaquín Alejandro Fernández
AU - Steel, Dora
AU - Stevanović, Galina
AU - Sykut-Cegielska, Jolanta
AU - Verbeek, Marcel M.
AU - García-Cazorla, Angeles
N1 - Publisher Copyright:
© 2021, The Author(s).
PY - 2021/12/1
Y1 - 2021/12/1
N2 - Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep phenotyping approach and describes the clinical and biochemical presentation at disease onset as well as diagnostic approaches of 275 patients from the registry of the International Working Group on Neurotransmitter related Disorders. The results reveal an increased rate of prematurity, a high risk for being small for gestational age and for congenital microcephaly in some disorders. Age at diagnosis and the diagnostic delay are influenced by the diagnostic methods applied and by disease-specific symptoms. The timepoint of investigation was also a significant factor: delay to diagnosis has decreased in recent years, possibly due to novel diagnostic approaches or raised awareness. Although each disorder has a specific biochemical pattern, we observed confounding exceptions to the rule. The data provide comprehensive insights into the phenotypic spectrum of neurotransmitter disorders.
AB - Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep phenotyping approach and describes the clinical and biochemical presentation at disease onset as well as diagnostic approaches of 275 patients from the registry of the International Working Group on Neurotransmitter related Disorders. The results reveal an increased rate of prematurity, a high risk for being small for gestational age and for congenital microcephaly in some disorders. Age at diagnosis and the diagnostic delay are influenced by the diagnostic methods applied and by disease-specific symptoms. The timepoint of investigation was also a significant factor: delay to diagnosis has decreased in recent years, possibly due to novel diagnostic approaches or raised awareness. Although each disorder has a specific biochemical pattern, we observed confounding exceptions to the rule. The data provide comprehensive insights into the phenotypic spectrum of neurotransmitter disorders.
UR - https://www.scopus.com/pages/publications/85115881692
U2 - 10.1038/s41467-021-25515-5
DO - 10.1038/s41467-021-25515-5
M3 - Article
C2 - 34545092
AN - SCOPUS:85115881692
SN - 2041-1723
VL - 12
JO - Nature Communications
JF - Nature Communications
IS - 1
M1 - 5529
ER -